ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.390+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002898584 SCV003235486 likely pathogenic Cernunnos-XLF deficiency 2023-04-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the NHEJ1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NHEJ1 are known to be pathogenic (PMID: 16439204, 20597108). This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that disruption of this splice site is associated with altered splicing resulting in multiple RNA products (PMID: 28741180). ClinVar contains an entry for this variant (Variation ID: 2030417). Disruption of this splice site has been observed in individual(s) with clinical features of NHEJ1-related conditions (PMID: 28741180).

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